rs1057518750

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057518750(C;T)

Make rs1057518750(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

110761523

Gene

SLC25A46

is a	snp
is	mentioned by
dbSNP	rs1057518750
dbSNP (old)	rs1057518750
ClinGen	rs1057518750
ebi	rs1057518750
HLI	rs1057518750
Exac	rs1057518750
Gnomad	rs1057518750
Varsome	rs1057518750
Map	rs1057518750
PheGenI	rs1057518750
Biobank	rs1057518750
1000 genomes	rs1057518750
hgdp	rs1057518750
ensembl	rs1057518750
gopubmed	rs1057518750
geneview	rs1057518750
scholar	rs1057518750
google	rs1057518750
pharmgkb	rs1057518750
gwascentral	rs1057518750
openSNP	rs1057518750
23andMe	rs1057518750
23andMe all	rs1057518750
SNPshot	rs1057518750
SNPdbe	rs1057518750
MSV3d	rs1057518750
GWAS Ctlg	rs1057518750

Max Magnitude

0

ClinVar
Risk	rs1057518750(T;T)
Alt	rs1057518750(T;T)
Reference	Rs1057518750(C;C)
Significance	Pathogenic
Disease	NEUROPATHY
Variation	info
Gene	SLC25A46
CLNDBN	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
Reversed	0
HGVS	NC_000005.9:g.110097223C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412634.1,